At 14:19 on January 10, 2020, with a loud cry of a baby, the first case of "third-generation IVF" baby in Sichuan Province was successfully born in the West China Second Hospital of Sichuan University, which was the first case completed in Sichuan Province to use the "preimplantation genetics test (pgt)" technology to diagnose normal embryos, and the baby who successfully conceived and successfully delivered after transfer marked a new level of assisted reproductive technology in Sichuan Province. Interventions to prevent birth defects enter new milestones.
Ms. Huang (pseudonym) was married for 3 years, and after marriage, she had two spontaneous miscarriages, which were diagnosed as chromosomal balance translocation after examination. Chromosomal balance translocation is one of the most common chromosomal structural abnormalities and is an important cause of infertility and repeated spontaneous abortions. After experiencing two spontaneous abortions, Ms. Huang decided not to consider having a child anymore. Until October 2018, after the genetic counseling clinic of the Second Hospital of West China of Sichuan University and the consultation and consultation of experts from the PGT multidisciplinary outpatient clinic, the hope of the couple's desire to have a healthy child was ignited. Director Huang Wei led by Luo Shan, Associate Professor Fan Wei as the core of the reproductive medicine team and the prenatal diagnosis center director Liu Shanling led by the joint efforts of Chen Xinlian teacher team, the patient successfully obtained 5 blastocysts for pgt testing, the results show that 2 embryos did not find chromosomal aneuploidy and chromosome copy number abnormalities, Ms. Huang and her husband and wife after learning that there are normal embryos tested, without hesitation to request the transfer of a normal embryo, in May 2019 this embryo was successfully transferred into Ms. Huang's uterus, successful pregnancy, Subsequent amniocentesis and high-throughput sequencing analysis of fetal chromosomes also confirmed that no abnormalities were seen in fetal chromosomes. Today, a live baby was successfully delivered by caesarean section, and all the current situation of the mother and baby is normal.
Preimplantation genetic testing technology (PGT), commonly known as "third-generation IVF", refers to the in vitro fertilization of embryos transferred into the uterus, through micro-manipulation technology to obtain a small number of cells for genetic analysis testing, excluding embryos carrying genetic abnormalities and then transferred into the uterus, this technology can effectively prevent the birth of children with genetic diseases. PGT technology involves obstetrics and gynecology, embryology, genetics and other multidisciplinary fields, mainly used for chromosomal balance translocation, chromosome Roche translocation, chromosome inversion and other chromosomal abnormalities, thalassemia, x-linked severe joint immunodeficiency, hereditary deafness, methylmalonic acidemia and other single gene genetic diseases, serious diseases with genetic susceptibility such as patients with hereditary breast cancer brca1, brca2 pathogenic mutations and hla matching, etc. To help families at risk of genetic abnormalities achieve their desire to have healthy children. For patients with advanced age, recurrent miscarriage and repeated implant failure, pregnancy and live birth rates can also be increased by pgt technology to improve pregnancy outcomes.
PGT technology is currently one of the fastest developing and most technically demanding fertility technologies in the field of assisted reproduction. After preliminary technical exploration and full preparation, the Department of Reproductive Medicine of the Second Hospital of West China of Sichuan University obtained the trial operation qualification of preimplantation genetic testing technology through the approval of the Sichuan Provincial Health Commission in September 2018, and obtained the formal operation qualification on September 20, 2019, becoming the first unit in Sichuan Province to obtain the formal operation qualification of pgt technology. Up to now, more than 140 patients who have been treated with PGT have a pregnancy rate of 70% among patients who have undergone blastocyst transplantation, and more than 30 "three generations" of babies will be born this year.
The birth of the first "third generation IVF" baby in Sichuan Province announced the successful application of PGT technology in Sichuan Province, filled the gap of PGT technology in our province, and laid a solid foundation for Sichuan and even southwest China to strengthen the prevention and control of birth defects through PGT technology and protect families at risk of genetic diseases from the harm caused by unintended termination of pregnancy.
Cover reporter Cheng Yu
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